Keeping growth on track

Research supported by the NCRC has led to an improved diagnostic test for hypoglycaemia that has now been adopted by the Children’s Hospital of Philadelphia (CHOP), and is recommended for adoption internationally.

Growth is a fundamental process of childhood. Unfortunately, it does not always go according to plan, and failure to grow at the normal rate can have profound long-term consequences for affected children. Understanding how this happens, and how interventions can be improved, is the subject of the research undertaken by Dr. Colin Hawkes, with support from international collaborators.

Indeed, from the outset, this was very international project, linking NCRC, UCC where Colin is registered for a PhD, and the Children’s Hospital of Philadelphia (CHOP), one of the most prestigious children’s hospitals in the world.

Abnormal childhood growth is a common concern of parents and physicians. Hormonal disorders, including growth hormone deficiency, can adversely affect growth. The early detection and treatment of this disease can result in the child reaching normal adult height, but missed diagnosis can cause irreversible short stature. Unfortunately, the current tests for growth hormone deficiency are problematic, and up to half of normal children tested, who are without this disease will be misclassified as having growth hormone deficiency. This can result in children receiving unnecessary (and potentially harmful) daily injections. It may also result in the real underlying problem being missed.

Growth hormone deficiency can result from structural brain abnormalities, which makes the early identification of this disorder even more important. Dr. Hawkes’ research aims to improve the medical evaluation of children with growth disorders in three specific ways:

to improve our understanding of normal childhood growth through thorough analysis of growth and nutrition in healthy children;

to improve available diagnostic tests used to evaluate children with abnormal growth;

to identify new genetic mutations that cause poor growth in children.

Results to date have already shown how the current diagnostic evaluation of children with hypoglycaemia, which often incorrectly identifies growth hormone deficiency, can be improved. The improved diagnostic test from this study has now been adopted by CHOP, and is recommended for adoption internationally.

Further Collaborations in USA

Colin’s work to unravel the role of genetics in poor growth – and to help develop potential treatments for growth deficiency – has led to new collaborations with leading children’s hospitals in the USA (The Children’s Hospital of Philadelphia, Cincinnati Children’s Medical Centre and Boston Children’s Hospital).

Already the work is yielding results, and has led to additional financial support from US funding bodies.

Professor Deirdre Murray, Colin’s supervisor in UCC and the Ireland based Principal Investigator on this project, is also a lead on the Cork BASELINE Study. This study has collected detailed body composition data on over a thousand infants in the first three months of life. Colin has now been able to use this data to develop, for the first time, the optimal way to describe body composition in infants. They have also generated reference data for this measure, and this will be used as a measure of infant body composition in future studies.

“Being able to conduct much of this work in one of the world’s best Children’s Hospitals has hugely improved the impact of the work” said Professor Murray.